Varaico: Literature-Extracted Genetic Variants

Gene:VSX2
Variant:p.A57insFs

VSX2

146 papers

RefSeq Summary

This gene encodes a homeobox protein originally described as a retina-specific transcription factor. Mutations in this gene are associated with microphthalmia, cataracts and iris abnormalities. [provi...

Pfam Domains

Homeodomainaa 149–205UCSCHomeodomain
OARaa 300–318UCSCOAR motif

Gene Aliases

HGNC Name

visual system homeobox 2

HGNC Previous Symbols

HOX10; CHX10

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_182894.3
p.A57insFs
c.171dupC
Surrounding Variants
1 paper
NM_182894.3
p.A57T
c.169G>A
1 paper
NM_182894.3
p.G55D
c.164G>A
1 paper
NM_182894.3
p.G59G
c.177G>C
1 paper
NM_182894.3
p.H60Y
c.178C>T
1 paper
NM_182894.3
p.A51T
c.151G>A
1 paper
NM_182894.3
p.P49R
c.146C>G
1 paper
NM_182894.3
p.R65C
c.193C>T
1 paper
NM_182894.3
p.R65R
c.195C>A
1 paper
NM_182894.3
p.S46R
c.136A>C
1 paper
NM_182894.3
p.P44R
c.131C>G
1 paper
NM_182894.3
p.E43K
c.127G>A
1 paper
NM_182894.3
p.A71_G72insG
c.211_215ins3
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